Canonical Allele Identifier: CA394303633
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985866-G-A
MyVariant Identifiers: chr16:g.2035867G>A (hg19) chr16:g.1985866G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985866G>A , CM000678.2:g.1985866G>A GRCh38
NC_000016.9:g.2035867G>A , CM000678.1:g.2035867G>A GRCh37
NC_000016.8:g.1975868G>A NCBI36
NG_016288.1:g.6718G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231G>A ENSP00000455885.1:p.Arg77=
ENST00000248114.7:c.456G>A MANE Select ENSP00000248114.6:p.Arg152=
ENST00000248114.6:c.456G>A ENSP00000248114.6:p.Arg152=
ENST00000565658.1:n.613G>A
ENST00000567719.1:c.231G>A ENSP00000455885.1:p.Arg77=
ENST00000569451.1:c.259G>A ENSP00000456432.1:p.Ala87Thr
NM_005262.2:c.456G>A NP_005253.3:p.Arg152=
NM_005262.3:c.456G>A MANE Select NP_005253.3:p.Arg152=
Search 100 bp 5'
Search 100 bp 3'